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Aim <p>To study the molecular profiling of conventional adenomatoid odontogenic tumor (AOT) by 50-gene panel next-generation sequencing (NGS), and to compare it with the mutations of the so-called “cystic variant of adenomatoid odontogenic tumor”.</p> Methodology <p>After obtaining clearance from the institutional ethical committee, 3 cases of conventional AOT and 2 reported cases of cystic AOT were processed for next-generation sequencing for a 50-gene panel. The variants were annotated and filtered using the GENEYX (version 6.1) analysis workflow, which implements the guidelines of the American College of Medical Genetics and Genomics (ACMG), the American Association of Molecular Pathology (AMP), and the College of American Pathologists (CAP).</p> Results <p>The conventional AOT showed missense mutations with loss of function of TP53 on exon 8 with CDS /AA change at c.841G &gt; A/ p.Asp281Asn and exon 5 with CDS /AA change at c.476&#xa0;C &gt; T/ p.Ala159Val. The other significant mutations were missense mutations on exon 4 of the KRAS gene [chr12:25378651 (T &gt; C)] and exon 4 of the IDH2 gene [chr15:90631838 (C &gt; T)]. The cystic variant lacked any of these pathogenic mutations.</p> Conclusion <p>Conventional AOTs are characterized by missense mutations in the KRAS, TP53, and IDH2 genes, indicating their true neoplastic nature rather than a hamartomatous lesion. Furthermore, the absence of these mutations in the so-called cystic AOT, as revealed by a 50-gene panel next-generation sequencing, suggests that it may be non-neoplastic or driven by other genes not included in the current panel.</p>

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Cystic Variant of Adenomatoid Odontogenic Tumor Lacks Novel TP53 and IDH2 Mutations of Adenomatoid Odontogenic Tumor: A Preliminary Next-Generation Sequencing Analysis

  • 期刊论文

  • 发表日期：

    2026年2月25日

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  • Akshat M. Sakkaria,
  • Deepak Pandiar,
  • Reshma Poothakulath Krishnan

摘要

Aim

To study the molecular profiling of conventional adenomatoid odontogenic tumor (AOT) by 50-gene panel next-generation sequencing (NGS), and to compare it with the mutations of the so-called “cystic variant of adenomatoid odontogenic tumor”.

Methodology

After obtaining clearance from the institutional ethical committee, 3 cases of conventional AOT and 2 reported cases of cystic AOT were processed for next-generation sequencing for a 50-gene panel. The variants were annotated and filtered using the GENEYX (version 6.1) analysis workflow, which implements the guidelines of the American College of Medical Genetics and Genomics (ACMG), the American Association of Molecular Pathology (AMP), and the College of American Pathologists (CAP).

Results

The conventional AOT showed missense mutations with loss of function of TP53 on exon 8 with CDS /AA change at c.841G > A/ p.Asp281Asn and exon 5 with CDS /AA change at c.476 C > T/ p.Ala159Val. The other significant mutations were missense mutations on exon 4 of the KRAS gene [chr12:25378651 (T > C)] and exon 4 of the IDH2 gene [chr15:90631838 (C > T)]. The cystic variant lacked any of these pathogenic mutations.

Conclusion

Conventional AOTs are characterized by missense mutations in the KRAS, TP53, and IDH2 genes, indicating their true neoplastic nature rather than a hamartomatous lesion. Furthermore, the absence of these mutations in the so-called cystic AOT, as revealed by a 50-gene panel next-generation sequencing, suggests that it may be non-neoplastic or driven by other genes not included in the current panel.